Canonical Allele Identifier: CA126983116

Gene: FBN2

Linked Data

• dbSNP Id: rs1030255467
• MyVariant Identifiers: chr5:g.127640689G>A (hg19) ; chr5:g.128304997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304997G>A , CM000667.2:g.128304997G>A	GRCh38
NC_000005.9:g.127640689G>A , CM000667.1:g.127640689G>A	GRCh37
NC_000005.8:g.127668588G>A	NCBI36
NG_008750.1:g.238047C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2544C>T
ENST00000703785.1:n.2463C>T
ENST00000262464.9:c.5760C>T MANE Select	ENSP00000262464.4:p.His1920=
ENST00000262464.8:c.5760C>T	ENSP00000262464.4:p.His1920=
ENST00000508053.5:c.5760C>T	ENSP00000424571.1:p.His1920=
ENST00000619499.4:c.5757C>T	ENSP00000482132.1:p.His1919=
NM_001999.3:c.5760C>T	NP_001990.2:p.His1920=
XM_017009228.2:c.5607C>T	XP_016864717.1:p.His1869=
NM_001999.4:c.5760C>T MANE Select	NP_001990.2:p.His1920=